CD40L基因rs3092921G/A和rs3092933G/A位点多态性在广西壮族和汉族人群中的分布

摘要:目的　研究CD40L基因单核苷酸多态性（rs3092921G/A和rs3092933G/A）在广西汉族和壮族人群中的分布，同时对比不同种族间CD40L基因型及等位基因频率分布的差别。方法　采用聚合酶链反应 -限制性片段长度多态性的方法，检测 201名广西汉族人和 200 名广西壮族人 CD40L基因多态性，比较两组人群两个位点的基因型和等位基因的分布频率，并与人类基因组计划（HapMap）公布的欧洲人、非洲人、日本人和中国北京人的单核苷酸多态性分型数据比较，剖析这 6个人群的基因型及等位基因的分布频率。结果　在广西汉族、壮族人群中，CD40L基因 rs3092921G/A和rs3092933G/A两位点 GG、GA 及 AA基因型频率均分别为93.0%、4.0%、3.0%和87.0%、7.0%、6.0%；G和A等位基因频率均分别为 95.0%、5.0% 和 90.5%、9.5%。两位点基因型频率在两个人群中的分布差异无统计学意义（χ2均为4.10；P均＞0.05），两位点等位基因频率的分布差异有统计学意义（χ2均为6.12；P均＜0.05）。与人类基因组计划（HapMap）公布的欧洲人、非洲人、日本人和中国北京人的单核苷酸多态性分型数据进行比较，CD40L 基因rs3092921G/A和rs3092933G/A两个位点基因型和等位基因频率在广西汉族人、北京人与日本人和非洲人群的差异具有统计学意义（χ2分别为6.68、10.14、304.70和6.68、10.14、13.44；P均＜0.05）。结论　在广西地区壮族和汉族人群中存在着CD40L基因多态性。广西汉族人群CD40L基因多态性的分布频率与其他种族人群比较存在显著的差异，这种差异也许是与CD40L相关的疾病在不同种族人群间的发病率不同的原因之一，对于群体遗传学及人类学的研究可能起非常重要的作用。

Distribution of the genetic polymorphism of CD40L gene in Guangxi Zhuang and Han population

Abstract: Objective To study the gene polymorphism of CD40L (rs3092921G/A and rs3092933G/A) in Guangxi Zhuang and Han population, and to compare the differences regarding the distribution of genotypes and allele frequencies of CD40L between different races. Methods The method of polymerase chain reaction-restriction fragment length polymorphism was taken to detect the genotype and allele frequencies of the CD40L gene polymorphism among 201 Chinese Han and 200 Zhuang population in Guangxi, and they were compared with Single Nucleotide Polymorphism (SNP) genotyping data of European, African, Japanese and Chinese who were in Beijing from the Human Genome Project (HapMap). The aim was to analyze the distribution of genotype and allele frequencies of the six groups. Results The frequencies of the GG, GA, and AA genotypes of rs3092921G/A and rs3092933G/A were 93.0%, 4.0%, 3.0% in Han population, and 87.0%, 7.0%, 6.0% in Zhuang population, respectively. The frequencies of the G and A alleles were 95.0% and 5.0% in Han population, and 95.0% and 5.0% in Zhuang population, respectively. Differences were not statistically significant between the two population in the two genotype frequencies (P>0.05). However, differences were statistically significant between the two population in the two allele frequencies (P<0.05). When compared the data from the HapMap, the genotype and allele frequencies of CD40L gene rs3092921G/A and rs3092933G/A in both Han and Zhuang population had statistical difference from those in Beijing, Japanese and African population (P<0.05). Conclusion There was CD40L gene polymorphism among Han and Zhuang population in Guangxi. The distribution frequencies are significantly different compared to other ethnic population. These differences might be one of the reasons to the difference morbidity of CD40L-related among ethnics, and it may play an important role on the studies of population genetics and anthropology.